MITOCHONDRIAL MUTATION m.1555A>G IN MT-RNR1 AS A PREDICTIVE BIOMARKER OF AMINOGLYCOSIDE-INDUCED SENSORINEURAL HEARING LOSS IN CHILDREN

The mitochondrial mutation m.1555A>G in the MT-RNR1 gene (encoding 12S rRNA) structurally remodels the mitochondrial ribosome to resemble its bacterial counterpart, conferring extreme sensitivity to aminoglycoside antibiotics. Even a single standard therapeutic course of gentamicin or amikacin may trigger irreversible bilateral profound deafness in carriers. Given the widespread use of aminoglycosides in neonatal intensive care, identification of at-risk patients prior to drug exposure is of critical clinical importance.

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